NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001919272.2
Allele description
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-B (MPS3B)
- Synonyms:
- NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920
-
BP716314 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP716314 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL431o01ex 3', mRNA sequencegi|46064907|gnl|dbEST|24582047|dbj| 314.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023